Incidental Mutation 'IGL02348:Gmpr2'
| ID |
289380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmpr2
|
| Ensembl Gene |
ENSMUSG00000002326 |
| Gene Name |
guanosine monophosphate reductase 2 |
| Synonyms |
5730544D12Rik, 1810008P16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
IGL02348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55909398-55916657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55915758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 312
(I312N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002397]
[ENSMUST00000007733]
[ENSMUST00000226314]
[ENSMUST00000227842]
[ENSMUST00000227914]
[ENSMUST00000227178]
[ENSMUST00000227873]
|
| AlphaFold |
Q99L27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002397
AA Change: I312N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326
AA Change: I312N
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
8 |
347 |
7.5e-147 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007733
|
| SMART Domains |
Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TINF2_N
|
20 |
159 |
1.8e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227696
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
| Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
| Atp13a3 |
C |
T |
16: 30,170,046 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
| Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
| Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
| Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,721,354 (GRCm39) |
V433I |
probably benign |
Het |
| Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
| Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
| Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
| Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
| Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
| Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
| Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
| Nfya |
G |
A |
17: 48,700,304 (GRCm39) |
Q122* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
| Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,610,452 (GRCm39) |
Y685C |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
| Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
| Sumf2 |
G |
T |
5: 129,888,711 (GRCm39) |
G216C |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
| Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
| Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
| Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
Het |
|
| Other mutations in Gmpr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Gmpr2
|
APN |
14 |
55,913,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00949:Gmpr2
|
APN |
14 |
55,914,207 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Gmpr2
|
UTSW |
14 |
55,915,402 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0197:Gmpr2
|
UTSW |
14 |
55,910,192 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0323:Gmpr2
|
UTSW |
14 |
55,910,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0594:Gmpr2
|
UTSW |
14 |
55,915,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Gmpr2
|
UTSW |
14 |
55,914,200 (GRCm39) |
splice site |
probably benign |
|
|
R2904:Gmpr2
|
UTSW |
14 |
55,910,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Gmpr2
|
UTSW |
14 |
55,914,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5407:Gmpr2
|
UTSW |
14 |
55,915,733 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5695:Gmpr2
|
UTSW |
14 |
55,914,691 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6721:Gmpr2
|
UTSW |
14 |
55,910,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Gmpr2
|
UTSW |
14 |
55,910,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7623:Gmpr2
|
UTSW |
14 |
55,910,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8181:Gmpr2
|
UTSW |
14 |
55,910,441 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Gmpr2
|
UTSW |
14 |
55,913,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9487:Gmpr2
|
UTSW |
14 |
55,915,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0025:Gmpr2
|
UTSW |
14 |
55,912,847 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Gmpr2
|
UTSW |
14 |
55,910,200 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Posted On |
2015-04-16 |
Incidental Mutation